{"orpha":59135,"name":"Laing distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal myopathy type 1","MPD1"],"definition":"A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-59135/","orphanet_url":"https://www.orpha.net/en/disease/detail/59135","names":{"fr":{"name":"Myopathie distale de Laing","synonyms":["MPD1","Myopathie distale type 1"],"definition":"Myopathie distale autosomique dominante rare caractérisée par une faiblesse principalement du gros orteil, du muscle permettant la flexion dorsale de la cheville, de l'extenseur du doigt et du fléchisseur du cou. La progression est lente et varie selon l'âge d'apparition, la sévérité, le degré de faiblesse et d'atteintes cardiaque et respiratoire."},"de":{"name":"Myopathie, distale, Typ Laing","synonyms":["MPD1","Myopathie, distale, Typ 1"],"definition":"Eine seltene distale Myopathie, die durch eine vorrangige Schwäche der Großzehe, der Knöchel-Dorsalflexoren, der Finger-Streckmuskeln und der Nackenflexoren gekennzeichnet ist. Der Verlauf ist langsam und variiert in Bezug auf Alter, Schweregrad, Schwäche, kardiale und respiratorische Beteiligung."},"es":{"name":"Miopatía distal de Laing","synonyms":["MPD1","Miopatía distal tipo 1"],"definition":"Es una miopatía distal autosómica dominante poco frecuente caracterizada por debilidad, particularmente del primer dedo del pie, del dorsiflexor del tobillo, del extensor de los dedos y del flexor del cuello. La progresión es lenta con una edad de aparición, gravedad, debilidad y afectación cardiorrespiratoria variables."},"it":{"name":"Miopatia distale di Laing","synonyms":["MPD1","Miopatia distale a esordio precoce di Laing","Miopatia distale, tipo 1"]},"nl":{"name":"Distale myopathie, Laing-type","synonyms":["Distale myopathie type 1","MPD1"],"definition":"Een zeldzame autosomaal dominante distale myopathie, gekenmerkt door zwakte van vooral grote teen, dorsaalflexor van enkel, strekspier van vinger, en buigspier van nek. Progressie verloopt traag, met variaties in aanvangsleeftijd, ernst, zwakte, en betrokkenheid van hart en ademhaling."},"pt":{"name":"Miopatia distal Laing","synonyms":["MPD1","Miopatia distal tipo 1"],"definition":"Miopatia distal autossómica dominante rara caracterizada por fraqueza preferencial do hálux, dorsiflexor do tornozelo, extensor dos dedos e flexor do pescoço. A progressão é lenta, com variabilidade na idade de início, gravidade, fraqueza e envolvimento cardíaco e respiratório."},"pl":{"name":"Miopatia dystalna Lainga o wczesnym początku","synonyms":["Choroba Gowersa","Miopatia dystalna typu 1","MPD1"]},"cs":{"name":"Laingova distální myopatie s časným nástupem","synonyms":["Distální myopatie, typ 1","Gowersova nemoc","MPD1"]},"uk":{"name":"Дистальна міопатія з раннім початком","synonyms":["Дистальна міопатія типу 1","Хвороба Говерса","MPD1"],"definition":"A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement."},"zh":{"name":"Laing早发性远端肌病","synonyms":["远端肌病1型"]},"tr":{"name":"Erken başlangıçlı distal miyopati","synonyms":["MPD1","Gowers hastalığı","Distal miyopati tip 1"]}},"xrefs":[{"source":"OMIM","code":"160500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552004","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10769","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":209185,"name":"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)","classifications":[156]}],"children":[],"genes":[{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301606[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-05","source":"7847377[PMID]_12975303[PMID]_20733148[PMID]","terms":[{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011916","label":"Toe extensor amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008316","label":"Abnormal mitochondria in muscle tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001430","label":"Abnormality of the calf musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003789","label":"Minicore myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004696","label":"Talipes cavus equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012507","label":"Weakness of orbicularis oculi muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Excluded (0%)","criteria":null}]}}